Canonical Allele Identifier: CA400324219
Gene: MKS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58206113T>A , CM000679.2:g.58206113T>A GRCh38
NC_000017.10:g.56283474T>A , CM000679.1:g.56283474T>A GRCh37
NC_000017.9:g.53638473T>A NCBI36
NG_013020.1:g.18386T>A
NG_013032.1:g.18493A>T , LRG_687:g.18493A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.*58A>T ENSP00000316631.6:n.*58A>T
ENST00000393119.7:c.1646A>T MANE Select ENSP00000376827.2:p.Asp549Val
ENST00000537529.7:c.1217A>T ENSP00000442096.3:p.Asp406Val
ENST00000675753.2:c.*1265A>T ENSP00000502156.1:n.*1265A>T
ENST00000676787.1:c.1517A>T ENSP00000503999.1:p.Asp506Val
ENST00000677111.1:c.*1120A>T ENSP00000504282.1:n.*1120A>T
ENST00000677160.1:n.2920A>T
ENST00000677416.1:n.2967A>T
ENST00000677486.1:c.*990A>T ENSP00000503852.1:n.*990A>T
ENST00000677709.1:n.2346A>T
ENST00000678011.1:n.2546A>T
ENST00000678432.1:c.*1420A>T ENSP00000504452.1:n.*1420A>T
ENST00000678463.1:c.1563A>T ENSP00000502984.1:p.Gly521=
ENST00000678568.1:c.*970A>T ENSP00000504754.1:n.*970A>T
ENST00000678641.1:c.*990A>T ENSP00000503159.1:n.*990A>T
ENST00000678763.1:n.1961A>T
ENST00000313863.10:c.*58A>T ENSP00000316631.6:n.*58A>T
ENST00000393119.6:c.1646A>T ENSP00000376827.2:p.Asp549Val
ENST00000393120.6:c.*1053A>T ENSP00000376828.2:n.*1053A>T
ENST00000537529.6:c.1616A>T ENSP00000442096.2:p.Asp539Val
ENST00000583577.1:n.472A>T
NM_001165927.1:c.1616A>T , LRG_687t2:c.1616A>T NP_001159399.1:p.Asp539Val
NM_017777.3:c.1646A>T , LRG_687t1:c.1646A>T NP_060247.2:p.Asp549Val
XM_005257483.3:c.1563A>T XP_005257540.1:p.Gly521=
XM_005257485.3:c.1134A>T XP_005257542.1:p.Gly378=
XM_005257486.3:c.1037A>T XP_005257543.1:p.Asp346Val
XM_006721965.2:c.954A>T XP_006722028.1:p.Gly318=
XM_011524957.1:c.1572A>T XP_011523259.1:p.Gly524=
XM_011524958.1:c.1655A>T XP_011523260.1:p.Asp552Val
XM_011524959.1:c.*58A>T XP_011523261.1:n.*58A>T
NM_001321268.1:c.1037A>T NP_001308197.1:p.Asp346Val
NM_001321269.1:c.1563A>T NP_001308198.1:p.Gly521=
NM_001330397.1:c.*58A>T NP_001317326.1:n.*58A>T
XM_005257485.4:c.1134A>T XP_005257542.1:p.Gly378=
XM_006721965.3:c.954A>T XP_006722028.1:p.Gly318=
XM_011524957.2:c.1572A>T XP_011523259.1:p.Gly524=
XM_011524958.2:c.1655A>T XP_011523260.1:p.Asp552Val
XM_011524959.2:c.*58A>T XP_011523261.1:n.*58A>T
XM_017024805.1:c.1217A>T XP_016880294.1:p.Asp406Val
XR_002958042.1:n.1574A>T
NM_001321268.2:c.1037A>T NP_001308197.1:p.Asp346Val
NM_001321269.2:c.1563A>T NP_001308198.1:p.Gly521=
NM_001330397.2:c.*58A>T NP_001317326.1:n.*58A>T
NM_017777.4:c.1646A>T MANE Select NP_060247.2:p.Asp549Val